Leber congenital amaurosis
Information
- Disease name
- Leber congenital amaurosis
- Disease ID
- DOID:14791
- Description
- "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness." [url:http\://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| GUCY2D | 17 | 8,002,615 | 8,020,342 | 16 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03913143 | Active, not recruiting | Phase 2/Phase 3 | A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE) | April 4, 2019 | March 2023 |
| NCT01208389 | Active, not recruiting | Phase 1/Phase 2 | Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2 | November 2010 | June 2030 |
| NCT00999609 | Active, not recruiting | Phase 3 | Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis | October 2012 | July 2029 |
| NCT03920007 | Active, not recruiting | Phase 1/Phase 2 | Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D | September 12, 2019 | May 19, 2027 |
| NCT02714816 | Completed | Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65 | April 2016 | July 22, 2023 | |
| NCT02781480 | Completed | Phase 1/Phase 2 | Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) | April 2016 | December 2018 |
| NCT02970266 | Completed | Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. | September 2010 | November 2016 | |
| NCT00516477 | Completed | Phase 1 | Safety Study in Subjects With Leber Congenital Amaurosis | September 2007 | March 20, 2018 |
| NCT00749957 | Completed | Phase 1/Phase 2 | Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis | June 17, 2009 | September 22, 2017 |
| NCT00821340 | Completed | Phase 1 | Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations | February 1, 2009 | January 1, 2017 |
| NCT01496040 | Completed | Phase 1/Phase 2 | Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 | September 2011 | August 2014 |
| NCT06088992 | Recruiting | Early Phase 1 | Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT) | January 10, 2023 | December 30, 2024 |
| NCT02435940 | Recruiting | Inherited Retinal Degenerative Disease Registry | June 2014 | June 2037 | |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT05203939 | Recruiting | Phase 1/Phase 2 | Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis | January 24, 2022 | December 2024 |
| NCT05906953 | Recruiting | Phase 1/Phase 2 | Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR) | October 31, 2023 | December 2025 |
| NCT03913130 | Terminated | Phase 1/Phase 2 | Extension Study to Study PQ-110-001 (NCT03140969) | May 13, 2019 | October 3, 2022 |
| NCT04855045 | Unknown status | Phase 2/Phase 3 | An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene. | March 23, 2021 | December 2023 |
- Disase is a (Disease Ontology)
- DOID:5679
- Cross Reference ID (Disease Ontology)
- GARD:634
- Cross Reference ID (Disease Ontology)
- MESH:D057130
- Cross Reference ID (Disease Ontology)
- MIM:PS204000
- Cross Reference ID (Disease Ontology)
- NCI:C129075
- Cross Reference ID (Disease Ontology)
- ORDO:65
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:193413001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0339527
- Exact Synonym (Disease Ontology)
- LCA
- Exact Synonym (Disease Ontology)
- Leber's amaurosis
- Exact Synonym (Disease Ontology)
- Leber's congenital amaurosis
- Exact Synonym (Disease Ontology)
- Leber's disease
- OMIM Phenotype Series Number (OMIM)
- PS204000
- OrphaNumber from OrphaNet (Orphanet)
- 65
- MedGen concept unique identifier (MedGen Concept name)
- C0339527
- MedGen unique identifier (MedGen Concept name)
- 137922
- MeSH unique ID (MeSH (Medical Subject Headings))
- D057130